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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-139422194-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=139422194&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 139422194,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001244584.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1033T>A",
"hgvs_p": "p.Leu345Ile",
"transcript": "NM_016019.5",
"protein_id": "NP_057103.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 392,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": "ENST00000354926.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016019.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1033T>A",
"hgvs_p": "p.Leu345Ile",
"transcript": "ENST00000354926.9",
"protein_id": "ENSP00000347005.4",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 392,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": "NM_016019.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354926.9"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMC1-LUC7L2",
"gene_hgnc_id": 44671,
"hgvs_c": "c.1231T>A",
"hgvs_p": "p.Leu411Ile",
"transcript": "ENST00000541515.3",
"protein_id": "ENSP00000440222.1",
"transcript_support_level": 2,
"aa_start": 411,
"aa_end": null,
"aa_length": 458,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541515.3"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1030T>A",
"hgvs_p": "p.Leu344Ile",
"transcript": "ENST00000619796.4",
"protein_id": "ENSP00000483438.1",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 391,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619796.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "n.*852T>A",
"hgvs_p": null,
"transcript": "ENST00000456182.5",
"protein_id": "ENSP00000393012.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000456182.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "n.*852T>A",
"hgvs_p": null,
"transcript": "ENST00000456182.5",
"protein_id": "ENSP00000393012.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000456182.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1255T>A",
"hgvs_p": "p.Leu419Ile",
"transcript": "ENST00000867366.1",
"protein_id": "ENSP00000537425.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 466,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867366.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMC1-LUC7L2",
"gene_hgnc_id": 44671,
"hgvs_c": "c.1231T>A",
"hgvs_p": "p.Leu411Ile",
"transcript": "NM_001244584.3",
"protein_id": "NP_001231513.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 458,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244584.3"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1198T>A",
"hgvs_p": "p.Leu400Ile",
"transcript": "ENST00000947909.1",
"protein_id": "ENSP00000617968.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 447,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947909.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1054T>A",
"hgvs_p": "p.Leu352Ile",
"transcript": "ENST00000947908.1",
"protein_id": "ENSP00000617967.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 399,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947908.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1033T>A",
"hgvs_p": "p.Leu345Ile",
"transcript": "ENST00000867360.1",
"protein_id": "ENSP00000537419.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 392,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867360.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1030T>A",
"hgvs_p": "p.Leu344Ile",
"transcript": "NM_001270643.2",
"protein_id": "NP_001257572.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 391,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270643.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1030T>A",
"hgvs_p": "p.Leu344Ile",
"transcript": "ENST00000933629.1",
"protein_id": "ENSP00000603688.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 391,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933629.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1027T>A",
"hgvs_p": "p.Leu343Ile",
"transcript": "ENST00000867362.1",
"protein_id": "ENSP00000537421.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 390,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867362.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1024T>A",
"hgvs_p": "p.Leu342Ile",
"transcript": "NM_001244585.2",
"protein_id": "NP_001231514.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 389,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244585.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1024T>A",
"hgvs_p": "p.Leu342Ile",
"transcript": "ENST00000263545.7",
"protein_id": "ENSP00000263545.7",
"transcript_support_level": 5,
"aa_start": 342,
"aa_end": null,
"aa_length": 389,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263545.7"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1024T>A",
"hgvs_p": "p.Leu342Ile",
"transcript": "ENST00000541170.7",
"protein_id": "ENSP00000441604.1",
"transcript_support_level": 2,
"aa_start": 342,
"aa_end": null,
"aa_length": 389,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541170.7"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1021T>A",
"hgvs_p": "p.Leu341Ile",
"transcript": "ENST00000867367.1",
"protein_id": "ENSP00000537426.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 388,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867367.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.1003T>A",
"hgvs_p": "p.Leu335Ile",
"transcript": "ENST00000867365.1",
"protein_id": "ENSP00000537424.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 382,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867365.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.943T>A",
"hgvs_p": "p.Leu315Ile",
"transcript": "ENST00000867364.1",
"protein_id": "ENSP00000537423.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 362,
"cds_start": 943,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867364.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.934T>A",
"hgvs_p": "p.Leu312Ile",
"transcript": "ENST00000867363.1",
"protein_id": "ENSP00000537422.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 359,
"cds_start": 934,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867363.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LUC7L2",
"gene_hgnc_id": 21608,
"hgvs_c": "c.841T>A",
"hgvs_p": "p.Leu281Ile",
"transcript": "ENST00000867361.1",
"protein_id": "ENSP00000537420.1",
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{
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{
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{
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{
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{
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{
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{
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{
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],
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],
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"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.121,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001244584.3",
"gene_symbol": "FMC1-LUC7L2",
"hgnc_id": 44671,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1231T>A",
"hgvs_p": "p.Leu411Ile"
},
{
"score": -4,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_016019.5",
"gene_symbol": "LUC7L2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1033T>A",
"hgvs_p": "p.Leu345Ile"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_033999.1",
"gene_symbol": "LOC100129148",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.227+1091A>T",
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},
{
"score": -4,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000847755.1",
"gene_symbol": "ENSG00000310166",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.497+1091A>T",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}